Phenotypes Associated with This Genotype

Genotype
MGI:3720013

• Allelic Composition: Rpgr^Rd9/Rpgr^Rd9
• Genetic Background: C57BL/6-Rpgr^Rd9

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

Blond appearance of fundus and telangiectasia and vessel leakage in Rpgr^Rd9/Y and Rpgr^Rd9/Rpgr^Rd9 eyes while Rpgr^Rd9/Rpgr⁺ females show only diffuse white spots

vision/eye

abnormal ocular fundus morphology ( J:75095 , J:237833 )

♀ • fundus has a blond appearance (J:75095)

♀ (J:237833)

abnormal retina vasculature morphology ( J:237833 )

♀ • telangiectasia and some leakage from vessels in the retina

abnormal retina pigmentation ( J:237833 )

♀ • retinas show pronounced loss of pigment

decreased a-wave amplitude ( J:237833 )

♀ • electroretinogram a-wave amplitude shows a moderate gradual reduction that continues to 24 months of age

decreased b-wave amplitude ( J:237833 )

♀ • electroretinogram b-wave amplitude shows a moderate gradual reduction that continues to 24 months of age

cardiovascular system

abnormal retina vasculature morphology ( J:237833 )

♀ • telangiectasia and some leakage from vessels in the retina

telangiectasia ( J:237833 )

♀ • in the retina

pigmentation

abnormal retina pigmentation ( J:237833 )

♀ • retinas show pronounced loss of pigment

muscle

telangiectasia ( J:237833 )

♀ • in the retina